Varaico: Literature-Extracted Genetic Variants

Gene:TMIE
Variant:p.K130ins0
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TMIE

NM_147196.3:p.K130ins0

Associated Papers

Quantitative thresholds for variant enrichment in 13,845 cases: improving pathogenicity classification in genetic hearing loss.

Liu S et al.

Genome Medicine, 2023

38111038 (PubMed )
Supplement: 13073_2023_1271_MOESM1_ESM.xlsx › Table_S3

Novel sequence variants in the TMIE gene in families with autosomal recessive nonsyndromic hearing impairment.

Santos RL et al.

Journal of Molecular Medicine (berlin, Germany), 2006

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